Parents fight for daughter’s life

Sarah Larimore, diagnosed with cystinosis at 15-months-old, likes to play with her dolls and watch Monster High on Nickelodeon.

This article originally published 2-8-2013 at

On Monday, January 28, a South Carolina couple traveled to Washington, D.C., to speak with their representatives in Congress and ask them not to cut funding to research programs that could save their daughter’s life.

Jeff and Katie Larimore’s seven-year-old daughter, Sarah, has a rare genetic metabolic disease called cystinosis. The Larimores joined three cystinosis support groups in Washington and met with legislative aids from the offices of Sen. Lindsey Graham, Sen. Tim Scott, Rep. Joe Wilson, and Ohio Sen. Sherrod Brown. They had three requests: continue to allow incentives afforded by the Orphan Drug Act; continue funding the National Institute of Health (NIH); and continue the Medicaid program, TEFRA, that extends services to children with catastrophic diseases and disabilities.

Cystinosis: one family’s journey with a rare disease

This article originally posted 2-7-2013 on

Terri Schleuder serves on the Executive Board of the non-for-profit organisation, Cystinosis Research Network, where she helps raise awareness of this rare disease. Here, she tells her story about how the introduction of the Orphan Drug Act 1983 changed her life, her son’s life and many other patients’ lives for the better.

Study: Hundreds of rare disease drugs in testing

For the nearly 30 million Americans who suffer from a rare disease, there's heartening news: Drugmakers have been shifting much of their research away from pills for the millions to uncommon disorders that often kill prematurely because there are few or no treatment options.

Sigma-Tau Pharmaceuticals, Inc. receives FDA approval of Cystaran™ (cysteamine ophthalmic solution) 0.44% for treatment of corneal cystine crystals in cystinosis patients

Sigma-Tau Pharmaceuticals, Inc. announced today that the Company has received approval from the U.S. Food & Drug Administration (“FDA”) for CYSTARAN™ (cysteamine ophthalmic solution) 0.44%, a topical ophthalmic therapeutic, developed in partnership with the National Institutes of Health (“NIH”), for the treatment of patients suffering from corneal cystine crystal accumulation as a result of cystinosis. CYSTARAN™ is designated an Orphan Drug in the U.S., and has been granted seven years of market exclusivity.

Kidney Camp helps twins focus on what they can do

For one week each summer, Anjanelly and Jianelly Polanco don’t feel like kids with cystinosis. They just feel like normal kids.

For sick child, mother's devotion has made all the difference

What was wrong with little Kacy? The 4-year-old girl with the spunky personality had several symptoms that seemed unrelated: sensitivity to light, dehydration, excessive thirst and urination, protein in her urine and rickets. She had stopped growing and vomited every morning.


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